Hey, look, two posts in one day — assuming I finish this tonight.
We only had one appointment today, our meeting with Drs. Whitley and Utz. I had brought over copies of his test results from Cincinnati in September. Dr. Whitley looked over them, and gave a measured response that things looked well with the results, that most levels still looked normal. I figured at least it would give him another set of results to compare to the tests Armand will undergo this week.
Some updates — they are happy that we finally have reached the full dose on the miglustat, but during the meeting he was suffering from some severe pains from gas. Taking that into consideration, we are adjusting his formula — for the time being we will just use the KetoCal, removing the Polycose entirely. We will substitute some pure fructose starting next week. Fructose is a simpler sugar that won’t interact the same way with the miglustat – so less gas pains for the wee one, and he still gets needed sugar and calories.
We’re also set to slightly increase his ibuprofen, as the dose he’s on is just a bit low for his size. So starting next week he’ll go from 4.5ml (3 times per day) to 6ml (still, 3 times per day). We’ll also introduce some zantac to protect his tummy.
We also found out during a measurement on his head circumference that his melon size is still normal — an abnormally large Sputnik-type head might be a sign of hydrocephalus which would be a definite danger sign for Armand. But he measured out at just below 50th percentile. We were able to take a look at his mucopolysaccharide levels from July — his urine levels were slightly high, indicative that something is wrong, but in related lysosomal disorders like Sanfilippo Syndrome, the levels would be about 4-5 times higher. His cerebral spinal fluid (CSF) levels of mucopolysaccharides were actually in the normal range. To show how much we’re flying blind here with this disorder and the treatment, this was one of the first times that it really indicated that it’s the gangliosides (the substrate, the leftover lipids) in the brain that are causing the damage, and not the mucopolysaccharides (if you need a quick refresher on those two terms, check out our Glossary page). While Dr. Whitley noted that this was really “a data set of one” (Armand), this may be an indication of good things. They don’t have a treatment for mucopolysaccharides; they do for gangliosides — miglustat.
We are tentatively scheduled now to return January 14th Dr. Whitley initially was looking at 6 months down the road, but because of Armand’s decline and because we haven’t even taken his tests yet, we thought it would be easier to schedule for three months, and it would be easier to push it back than to schedule for six months and try to move things sooner if we had to. I probably wrote that in a very confusing fashion.
After we left, Armand continued to cry for a total of 6 hours, mostly due to gas pains, hunger (we had him off the feeding tube to vent his belly and to not add more sugar and miglustat and make things worse). I did take a cab on a quick run down to Target to grab some gripe water to help settle his pains, but nothing seemed to help until Lindy gave him one of his klonopin tabs (in addition to treatment of seizures, it’s also used to treat anxiety attacks). Once he relaxed, he was fine and is back on the feeding tube. We’ve also started a new rate of feeding for him. He was getting 67ml of KetoCal formula per hour for 18 hours, taking a 6 hour break. He will now get 80ml per hour for three hours, then take an hour off; he’ll continue that cycle all day then eventually get a four hour break at some point (he gets a total of 1200ml per day). Soon we’ll bump that up to 96ml per hour for 2 1/2 hours, with 1 1/2 hours off; then 12oml for two hours; 240ml in one hour; and finally 480 in 30 minutes, getting him 5 quick bolus feeds a day (and maybe eventually working in more and more ‘regular’ food like eggs, soft fruits, and his toddler treats).
I can’t think of anything else right now, so I will end with these last two notes.
As of right now (10:22 pm Central Time), Armand has had no episodes today.
And I got my ice cream.